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NDUFC2 - NADH:ubiquinone oxidoreductase subunit C2 Gene

Also Known as HLC-1; B14.5b; MC1DN36; NADHDH2; CI-B14.5b

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4718

About NDUFC2

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:78,068,297-78,079,862 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues.

Summary

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Apr 2022]

NDUFC2 Products (3)

mRNA	Protein	Name
NM_001204054.3	NP_001190983.1	NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 2
NM_001204055.2	NP_001190984.1	NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3
NM_004549.6	NP_004540.1	NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32320651	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	27626371	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
part of respiratory chain complex I	IDA IDA: Inferred from direct assay	12611891	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NDUFC2 Protein Structure

NDUF_C2

0
100
119 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase [ubiquinone] 1 subunit C2	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa

NDUFC2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81598	NDUFC2 Antibody (YA1343)	WB, IHC-P	Human
HY-P81598A	NDUFC2 Antibody (YA1343)(PBS only)	WB, IHC-P	Human

Related Diseases

Diseases	Alias
Mitochondrial Complex I Deficiency, Nuclear Type 36	MC1DN36 Mitochondrial Complex 1 Deficiency, Nuclear Type 36
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Nuclear Type Mitochondrial Complex I Deficiency	Mc1dn Mitochondrial Complex I Deficiency, Nuclear Type Mitochondrial Complex I Deficiency, Nuclear
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Leukodystrophy	Leukodystrophies
Myopathy	Muscular Diseases Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09156	NDUFC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21897	Ndufc2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28414	Ndufc2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NDUFC2	RGD	RGD:1307511
Mus musculus	NDUFC2	MGD	MGI:1344370